Massively parallel sequencing of 25 autosomal STRs including SE33 in four population groups for forensic applications

Abstract The introduction of massively parallel sequencing (MPS) in forensic investigation enables sequence-based large-scale multiplexing beyond size-based analysis using capillary electrophoresis (CE). For the practical application of MPS to forensic casework, many population studies have provided...

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Autores principales:	Ye-Lim Kwon, Bo Min Kim, Eun Young Lee, Kyoung-Jin Shin
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/ff472237649447999bea6349d0a0cc98
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spelling	oai:doaj.org-article:ff472237649447999bea6349d0a0cc982021-12-02T13:33:51ZMassively parallel sequencing of 25 autosomal STRs including SE33 in four population groups for forensic applications10.1038/s41598-021-82814-z2045-2322https://doaj.org/article/ff472237649447999bea6349d0a0cc982021-02-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-82814-zhttps://doaj.org/toc/2045-2322Abstract The introduction of massively parallel sequencing (MPS) in forensic investigation enables sequence-based large-scale multiplexing beyond size-based analysis using capillary electrophoresis (CE). For the practical application of MPS to forensic casework, many population studies have provided sequence data for autosomal short tandem repeats (STRs). However, SE33, a highly polymorphic STR marker, has little sequence-based data because of difficulties in analysis. In this study, 25 autosomal STRs were analyzed, including SE33, using an in-house MPS panel for 350 samples from four populations (African–American, Caucasian, Hispanic, and Korean). The barcoded MPS library was generated using a two-step PCR method and sequenced using a MiSeq System. As a result, 99.88% genotype concordance was obtained between length- and sequence-based analyses. In SE33, the most discordances (eight samples, 0.08%) were observed because of the 4 bp deletion between the CE and MPS primer binding sites. Compared with the length-based CE method, the number of alleles increased from 332 to 725 (2.18-fold) for 25 autosomal STRs in the sequence-based MPS method. Notably, additional 129 unique alleles, a 4.15-fold increase, were detected in SE33 by identifying sequence variations. This population data set provides sequence variations and sequence-based allele frequencies for 25 autosomal STRs.Ye-Lim KwonBo Min KimEun Young LeeKyoung-Jin ShinNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Ye-Lim Kwon Bo Min Kim Eun Young Lee Kyoung-Jin Shin Massively parallel sequencing of 25 autosomal STRs including SE33 in four population groups for forensic applications
description	Abstract The introduction of massively parallel sequencing (MPS) in forensic investigation enables sequence-based large-scale multiplexing beyond size-based analysis using capillary electrophoresis (CE). For the practical application of MPS to forensic casework, many population studies have provided sequence data for autosomal short tandem repeats (STRs). However, SE33, a highly polymorphic STR marker, has little sequence-based data because of difficulties in analysis. In this study, 25 autosomal STRs were analyzed, including SE33, using an in-house MPS panel for 350 samples from four populations (African–American, Caucasian, Hispanic, and Korean). The barcoded MPS library was generated using a two-step PCR method and sequenced using a MiSeq System. As a result, 99.88% genotype concordance was obtained between length- and sequence-based analyses. In SE33, the most discordances (eight samples, 0.08%) were observed because of the 4 bp deletion between the CE and MPS primer binding sites. Compared with the length-based CE method, the number of alleles increased from 332 to 725 (2.18-fold) for 25 autosomal STRs in the sequence-based MPS method. Notably, additional 129 unique alleles, a 4.15-fold increase, were detected in SE33 by identifying sequence variations. This population data set provides sequence variations and sequence-based allele frequencies for 25 autosomal STRs.
format	article
author	Ye-Lim Kwon Bo Min Kim Eun Young Lee Kyoung-Jin Shin
author_facet	Ye-Lim Kwon Bo Min Kim Eun Young Lee Kyoung-Jin Shin
author_sort	Ye-Lim Kwon
title	Massively parallel sequencing of 25 autosomal STRs including SE33 in four population groups for forensic applications
title_short	Massively parallel sequencing of 25 autosomal STRs including SE33 in four population groups for forensic applications
title_full	Massively parallel sequencing of 25 autosomal STRs including SE33 in four population groups for forensic applications
title_fullStr	Massively parallel sequencing of 25 autosomal STRs including SE33 in four population groups for forensic applications
title_full_unstemmed	Massively parallel sequencing of 25 autosomal STRs including SE33 in four population groups for forensic applications
title_sort	massively parallel sequencing of 25 autosomal strs including se33 in four population groups for forensic applications
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/ff472237649447999bea6349d0a0cc98
work_keys_str_mv	AT yelimkwon massivelyparallelsequencingof25autosomalstrsincludingse33infourpopulationgroupsforforensicapplications AT bominkim massivelyparallelsequencingof25autosomalstrsincludingse33infourpopulationgroupsforforensicapplications AT eunyounglee massivelyparallelsequencingof25autosomalstrsincludingse33infourpopulationgroupsforforensicapplications AT kyoungjinshin massivelyparallelsequencingof25autosomalstrsincludingse33infourpopulationgroupsforforensicapplications
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Massively parallel sequencing of 25 autosomal STRs including SE33 in four population groups for forensic applications

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